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Genetically borne diseases

Monday, October 15, 2012 | 2:40 PM

HAVE you heard about Malaysian Rare Disorders Society (PPJJM) or other types of disease association registered under this?

There are 60 types of diseases that have been registered through PPJJM date of which is osteogenesis imperfecta (brittle bones), Duchenne Muscular Dystrophy (DMD), Prader-Willi syndrome, chromosomal abnormalities, Marfan syndrome and others.

Most of the diseases associated with genetic elements but there are also occurring "spontaneous" in the absence of parents or siblings. Some also occur because of environmental factors.

There was a time people suffering from these diseases do not have a place in society.

Patients feel embarrassed, reluctant to leave the house, do not get proper treatment even public perception regarding their psychosocial problem for other patients do not get adequate expertise of the physician.

On the basis of do not want things like this persist, Chief Genetics and Metabolism Unit and Senior Consultant Paediatrician and Clinical Genetics at the University Malaya Medical Centre (UMMC), Professor Dr. Thong Meow Keong said, Genetics Unit was established in 1995 under the Department of Pediatrics, UMMC.

'' The fact that up to now not many doctors are really experts in the field of Rare Diseases (DE) this.

'' Many people do not know about these diseases even among doctors themselves do not understand the status of this distance learning causes difficulty patients to get a referral and treatment, "he said.

Although the number of patients each rare disease is slight, but the number of patients in all categories of rare diseases are many. In Europe alone there are 6.000 genetic disease categories reported.

This can vary from a very significant chronic diseases such as high blood pressure, diabetes, heart disease and so on, where the disease is just one but thousands of sufferers.

Consequently, the disease rarely gets attention among medical practitioners themselves as the perception that it is a disease that 'rarely' found.

'' As the discussion after discussion with the patient and their family, PPJJM established in 2007 as the 'umbrella' to memayungi members with illnesses that are not in the list of 'knowledge' society that they do not continue to idle and abandoned, "he said, stresses the importance of creating awareness and educate the public about individuals who are suffering from this distance learning.

Marfan Syndrome

When talking about the DE diseases, one of which is the Marfan syndrome.

According to Dr. Thong, purpose syndrome itself means a disease that has a profile which involves various organs or systems of the body, which can be identified by a medical practitioner.

In this situation, Marfan syndrome patients will face problems involving the eyes, bones, heart, skin, and at first this disease is difficult to detect just by a glance.

Features of this syndrome is certainly different from one patient to another and the main feature of this syndrome is the weakness of connective tissue (connective tissue disorder) or muscle binder in the patient's body.

Among the patients have long limbs, long fingers could be flexed-bending, body size is too tall, thin and easy to break off eye contact. Over time there were people who would have trouble bending the spine (scoliosis) causing their bodies bent, arms can not didepakan, vision problems, mobility and others.

'' The body is the eye need viscous energy. Small veins that can mindfully stretches hold eye contact. For patients with Marfan syndrome, small veins are loose causing the eye lens can easily become detached or dislodged (subluxation).

'' Patients with this syndrome will experience blurred vision and blindness as well, "he said.

Meanwhile syndrome patients also will have heart problems when heart tissue grown to become loose when the blood pumping. This causes the valves that allow blood to move only one way to make the valve condition 'prolapse' as mitral valve to be long and loose.

Major blood vessels of the heart, the aorta vessel may be expanded at the base (Dilated aortic root). This causes dangerous because major blood vessels may rupture and cause sudden death.

He added, Marfan syndrome symptoms involving other joints and bones, long fingers, loose joints, neurological problems, crooked spine and twisting the body cavity caused by scoliosis causes the patient to be lower even in childhood patients was a tall size.

'' The patients also experience skin cracks in places that are not supposed to like the shoulders, hips, arms and so on because stretch marks are in trouble, "he said.

Symptoms, syndrome gene

Dr. Thong added, Marfan Syndrome is a disease that is only noticeable flaws gradually. This means that people with this syndrome defects will be seen when they are more mature.

Often when the baby was born, did not see where the birth defects. A small number of infants may have a king-sized body more than usual.

Should parents have the background disease Marfan syndrome and infant problems, he should be brought to a doctor immediately to detect disease early.

This syndrome is associated with a genetic disorder of connective tissue (connective tissue). Individuals with this syndrome usually characterized by abnormally high size with his hands and legs are long and thin fingers.

This syndrome is inherited as dominant traits carried by FBN1 gene, which produces the protein fibrillin-1 link. Humans have a pair of FBN1 gene, one inherited from the father and one from the mother.

Because mutation (gene code changes) FBN1 gene, individuals who inherit a mutated gene FBN1 is from either the mother or father, would have the syndrome.

FBN1 gene mutation causes the connective tissue protein is not produced properly.

This syndrome has a range of expression from mild through to serious complications such as heart valves and aorta. It can also affect the lungs, eyes, lining of the spinal cord dura, bone and hard palate.

'' When meeting with a doctor, the genealogies of history will be drawn up for knowing whence the Marfan syndrome features available either from the line (by 3/4 of cases from the mother or father or both) or spontaneously.

'' The decline in genetic disease in which patients Marfan syndrome has a 1 in 2 (50%) each time the pregnancy gave birth to children with Marfan syndrome.

'' Therefore, each patient Marfan syndrome should get genetic counseling services and health care advice from medical geneticists, "he said.
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